Nur Erst- oder Letztautorschaften (inklusive geteilter Autorschaften) sind aufgeführt.
Eine vollständige und aktuelle Liste findet sich auf Google Scholar.
Bartolomaeus, T., Hentschel, J., Jamra, R. A., & Popp, B. (2023). Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%.
European Journal of Human Genetics,
31(10), 1154–1164.
https://doi.org/10.1038/s41431-023-01425-6
Bosch, E., Popp, B., Güse, E., Skinner, C., Van Der Sluijs, P. J., Maystadt, I., Pinto, A. M., Renieri, A., Bruno, L. P., Granata, S., Marcelis, C., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., De Marco, P., Ognibene, M., Abou Jamra, R., Platzer, K., Carter, L. B., Kuismin, O., Van Haeringen, A., Maroofian, R., Valenzuela, I., Cuscó, I., Martinez-Agosto, J. A., Rabani, A. M., Mefford, H. C., Pereira, E. M., Close, C., Anyane-Yeboa, K., Wagner, M., Hannibal, M. C., Zacher, P., Thiffault, I., Beunders, G., Umair, M., Bhola, P. T., McGinnis, E., Millichap, J., Van De Kamp, J. M., Prijoles, E. J., Dobson, A., Shillington, A., Graham, B. H., Garcia, E.-J., Kelly Galindo, M., Ropers, F. G., Nibbeling, E. Ar., Hubbard, G., Karimov, C., Goj, G., Bend, R., Rath, J., Morrow, M. M., Millan, F., Salpietro, V., Torella, A., Nigro, V., Kurki, M., Stevenson, R. E., Santen, G. W. E., Zweier, M., Campeau, P. M., Severino, M., Reis, A., Accogli, A., & Vasileiou, G. (2023). Elucidating the clinical and molecular spectrum of
SMARCC2-associated
NDD in a cohort of 65 affected individuals.
Genetics in Medicine, 100950.
https://doi.org/10.1016/j.gim.2023.100950
Lehmann, C., Pehnke, S., Weimann, A., Bachmann, A., Dittrich, K., Petzold, F., Fürst, D., De Fallois, J., Landgraf, R., Henschler, R., Lindner, T. H., Halbritter, J., Doxiadis, I., Popp, B., & Münch, J. (2023). Extended genomic
HLA typing identifies previously unrecognized mismatches in living kidney transplantation.
Frontiers in Immunology,
14, 1094862.
https://doi.org/10.3389/fimmu.2023.1094862
Popp, B., Brugger, M., Poschmann, S., Bartolomaeus, T., Radtke, M., Hentschel, J., Di Donato, N., Rump, A., Gburek‐Augustat, J., Graf, E., Wagner, M., Sorge, I., Lemke, J. R., Meitinger, T., Abou Jamra, R., Strehlow, V., & Brunet, T. (2023). The constitutional gain‐of‐function variant p.
Glu1099Lys in
NSD2 is associated with a novel syndrome.
Clinical Genetics,
103(2), 226–230.
https://doi.org/10.1111/cge.14241
Roessler, F., Beck, A. E., Susie, B., Tobias, B., Begtrup, A., Biskup, S., Caluseriu, O., Delanty, N., Fröhlich, C., Greally, M. T., Karnstedt, M., Klöckner, C., Kurtzberg, J., Schubert, S., Schulze, M., Weidenbach, M., Westphal, D. S., White, M., Wolf, C. M., Zyskind, J., Popp, B., & Strehlow, V. (2023). Genetic and phenotypic spectrum in the
NONO‐associated syndromic disorder.
American Journal of Medical Genetics Part A,
191(2), 469–478.
https://doi.org/10.1002/ajmg.a.63044
Klau, J., Abou Jamra, R., Radtke, M., Oppermann, H., Lemke, J. R., Beblo, S., & Popp, B. (2022). Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
European Journal of Human Genetics,
30(1), 117–125.
https://doi.org/10.1038/s41431-021-00981-z
Lieberwirth, J. K., Büttner, B., Klöckner, C., Platzer, K., Popp, B., & Abou Jamra, R. (2022).
AutoCaSc:
Prioritizing candidate genes for neurodevelopmental disorders.
Human Mutation,
43(12), 1795–1807.
https://doi.org/10.1002/humu.24451
Münch, J., Engesser, M., Schönauer, R., Hamm, J. A., Hartig, C., Hantmann, E., Akay, G., Pehlivan, D., Mitani, T., Coban Akdemir, Z., Tüysüz, B., Shirakawa, T., Dateki, S., Claus, L. R., Van Eerde, A. M., Smol, T., Devisme, L., Franquet, H., Attié-Bitach, T., Wagner, T., Bergmann, C., Höhn, A. K., Shril, S., Pollack, A., Wenger, T., Scott, A. A., Paolucci, S., Buchan, J., Gabriel, G. C., Posey, J. E., Lupski, J. R., Petit, F., McCarthy, A. A., Pazour, G. J., Lo, C. W., Popp, B., & Halbritter, J. (2022). Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney International,
101(5), 1039–1053.
https://doi.org/10.1016/j.kint.2022.01.028
Neuser, S., Krey, I., Schwan, A., Abou Jamra, R., Bartolomaeus, T., Döring, J., Syrbe, S., Plassmann, M., Rohde, S., Roth, C., Rehder, H., Radtke, M., Le Duc, D., Schubert, S., Bermúdez-Guzmán, L., Leal, A., Schoner, K., & Popp, B. (2022). Prenatal phenotype of
PNKP-related primary microcephaly associated with variants affecting both the
FHA and phosphatase domain.
European Journal of Human Genetics,
30(1), 101–110.
https://doi.org/10.1038/s41431-021-00982-y
Popp, B., Bienvenu, T., Giurgea, I., Metreau, J., Kraus, C., Reis, A., Fischer, J., Bralo, M. P., Tenorio‐Castaño, J., Lapunzina, P., Almoguera, B., Lopez‐Grondona, F., Sticht, H., & Zweier, C. (2022). The recurrent
TCF4 missense variant p.(
Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for
Pitt‐
Hopkins syndrome.
Clinical Genetics,
102(6), 517–523.
https://doi.org/10.1111/cge.14206
Popp, B., Ekici, A. B., Knaup, K. X., Schneider, K., Uebe, S., Park, J., Bafna, V., Meiselbach, H., Eckardt, K.-U., Schiffer, M., Reis, A., Kraus, C., & Wiesener, M. (2022). Prevalence of hereditary tubulointerstitial kidney diseases in the
German Chronic Kidney Disease study.
European Journal of Human Genetics,
30(12), 1413–1422.
https://doi.org/10.1038/s41431-022-01177-9
Neuser, S., Brechmann, B., Heimer, G., Brösse, I., Schubert, S., O’Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., Behrends, C., Darras, B. T., Graham, R. J., Jayakar, P., Byrne, B., Bar‐Aluma, B. E., Haberman, Y., Szeinberg, A., Aldhalaan, H. M., Hashem, M., Al Tenaiji, A., Ismayl, O., Al Nuaimi, A. E., Maher, K., Ibrahim, S., Khan, F., Houlden, H., Ramakumaran, V. S., Pagnamenta, A. T., Posey, J. E., Lupski, J. R., Tan, W., ElGhazali, G., Herman, I., Muñoz, T., Repetto, G. M., Seitz, A., Krumbiegel, M., Poli, M. C., Kini, U., Efthymiou, S., Meiler, J., Maroofian, R., Alkuraya, F. S., Abou Jamra, R., Popp, B., Ben‐Zeev, B., & Ebrahimi‐Fakhari, D. (2021). Clinical, neuroimaging, and molecular spectrum of
TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability.
Human Mutation,
42(6), 762–776.
https://doi.org/10.1002/humu.24206
Popp, B., Erber, R., Kraus, C., Vasileiou, G., Hoyer, J., Burghaus, S., Hartmann, A., Beckmann, M. W., Reis, A., & Agaimy, A. (2020). Targeted sequencing of
FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Modern Pathology,
33(11), 2341–2353.
https://doi.org/10.1038/s41379-020-0596-y
Hebebrand, M., Hüffmeier, U., Trollmann, R., Hehr, U., Uebe, S., Ekici, A. B., Kraus, C., Krumbiegel, M., Reis, A., Thiel, C. T., & Popp, B. (2019). The mutational and phenotypic spectrum of
TUBA1A-associated tubulinopathy.
Orphanet Journal of Rare Diseases,
14(1), 38.
https://doi.org/10.1186/s13023-019-1020-x
Hebebrand, M., Vasileiou, G., Krumbiegel, M., Kraus, C., Uebe, S., Ekici, A. B., Thiel, C. T., Reis, A., & Popp, B. (2019). A biallelic truncating
AEBP1 variant causes connective tissue disorder in two siblings.
American Journal of Medical Genetics Part A,
179(1), 50–56.
https://doi.org/10.1002/ajmg.a.60679
Popp, B., Agaimy, A., Kraus, C., Knaup, K. X., Ekici, A. B., Uebe, S., Reis, A., Wiesener, M., & Zweier, C. (2019). Dissecting
TSC2-mutated renal and hepatic angiomyolipomas in an individual with
ARID1B-associated intellectual disability.
BMC Cancer,
19(1), 435.
https://doi.org/10.1186/s12885-019-5633-1
Vasileiou, G., Hoyer, J., Thiel, C. T., Schaefer, J., Zapke, M., Krumbiegel, M., Kraus, C., Zweier, M., Uebe, S., Ekici, A. B., Schneider, M., Wiesener, M., Rauch, A., Faschingbauer, F., Reis, A., Zweier, C., & Popp, B. (2019). Prenatal diagnosis of
HNF1B ‐associated renal cysts:
Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Prenatal Diagnosis,
39(12), 1136–1147.
https://doi.org/10.1002/pd.5556
Popp, B., Krumbiegel, M., Grosch, J., Sommer, A., Uebe, S., Kohl, Z., Plötz, S., Farrell, M., Trautmann, U., Kraus, C., Ekici, A. B., Asadollahi, R., Regensburger, M., Günther, K., Rauch, A., Edenhofer, F., Winkler, J., Winner, B., & Reis, A. (2018). Need for high-resolution
Genetic Analysis in
iPSC:
Results and
Lessons from the
ForIPS Consortium.
Scientific Reports,
8(1), 17201.
https://doi.org/10.1038/s41598-018-35506-0
Popp, B., Ekici, A. B., Thiel, C. T., Hoyer, J., Wiesener, A., Kraus, C., Reis, A., & Zweier, C. (2017). Exome
Pool-
Seq in neurodevelopmental disorders.
European Journal of Human Genetics,
25(12), 1364–1376.
https://doi.org/10.1038/s41431-017-0022-1
Popp, B., Trollmann, R., Büttner, C., Caliebe, A., Thiel, C. T., Hüffmeier, U., Reis, A., & Zweier, C. (2016). Do the exome:
A case of
Williams-
Beuren syndrome with severe epilepsy due to a truncating de novo variant in
GABRA1.
European Journal of Medical Genetics,
59(10), 549–553.
https://doi.org/10.1016/j.ejmg.2016.09.002
Popp, B., Støve, S. I., Endele, S., Myklebust, L. M., Hoyer, J., Sticht, H., Azzarello-Burri, S., Rauch, A., Arnesen, T., & Reis, A. (2015). De novo missense mutations in the
NAA10 gene cause severe non-syndromic developmental delay in males and females.
European Journal of Human Genetics,
23(5), 602–609.
https://doi.org/10.1038/ejhg.2014.150
